武鸣县地中海贫血高风险夫妇调查结果分析

Analysis on the Survey Results of Mediterranean Anemia High-Risk Couples in Wuming County

目的调查武鸣县育龄夫妇中地中海贫血(简称地贫)高风险夫妇的发生率及各种地贫高风险夫妇基因型分布情况,为当地地贫出生缺陷干预提供理论依据。方法对650对(1 300人)武鸣县已婚待育夫妇全部做血细胞分析,对一方或双方红细胞平均体积(MCV)低于79 fL的夫妇做血红蛋白(Hb)电泳。筛出所有β地贫高风险夫妇及小部分α地贫高风险夫妇。在筛出的高风险夫妇之外的所有已做电泳的夫妇中选择携带α地贫基因可能性小的一方先做α地贫基因检测,再将检出的α地贫基因携带者的配偶做α地贫基因检测。诊断出所有α地贫高风险夫妇。结果 650对待育夫妇中检出地贫高风险夫妇25对(α地贫高风险夫妇21对,β地贫高风险夫妇4对),发生率为3.85%,1 300人(650对夫妇)中,检出β地贫99人,HbH病8人,HbCS19人。结论武鸣县地贫高风险夫妇发生率高,加大地贫出生缺陷干预力度会带来极大的社会及经济效益。

Objective To investigate the probability of being mediterranean anemia（MA） high-risk couple in Wuming county and to explore their genotype distribution,so as to provide theoretical basis for intervention of birth defects due to MA.Methods Blood cell analysis was performed in 650 married couples.If the mean corpuscular volume（MCV） of one or two of the couples was less than 79 fL,the blood from the couples was further subjected to hemoglobin（Hb） electrophoresis.Those with MA high-risk were screened out and for the other couples,the spouses who had smaller possibility to carry α MA gene further received α gene detection,and then,so did the spouses of whom who carried α gene.All α MA high-risk couples were diagnosed.Results Totally,25 MA high-risk couples were detected in 650 couples,with 21 couples carrying α gene and 4 couples carrying β gene.The incidence rate was 3.85%.Among 1,300 research objects（650 couples）,99 subjects carried β gene,8 were inflicted with HbH disease and 19 inflicted with HbCS.Conclusions The probability of being MA high-risk couples is high in Wuming county.Intervention on birth defects due to MA will bring great social and economic benefits.